Division of Molecular Medicine and Genomics

About the Division

The division of Genomics and NIBD brings clinical care together with research using latest technologies. The genomics department of NIBD provides services for individuals and their families who are affected by or at risk of a disorder with a significant genetic component.

Diagnostic Services and Testing.

Molecular Pathology test profile

  1. HLA typing by PCR
  2. Thalassemia genetic profile
  3. DNA Mutation for Beta Thalassemia
  4. DNA Mutation for Alpha Thalassemia
  5. DNA Mutation for Delta Beta Thalassemia
  6. Xmn 1 Polymorphism
  7. BCL 11 Polymorphism
  8. BCR-ABL Quantitative (Gene Expert)
  9. BCR-ABL Quantitative (P210 & P910)
  10. HCV RNA PCR (Quantitative & Qualitative)
  11. HBV RNA PCR (Quantitative & Qualitative)
  12. Factor-V Leiden Gene Mutation
  13. Cytomegalovirus Detection by PCR
  14. FLT-3 Mutation
  15. JAK-II Mutation (V617F)
  16. JAK-II Exon 12 Mutation
  17. Calreticulin
  18. Duchene Muscular Dystrophy (DMD) / Backer’s Disease
  19. PML RARA by PCR
  20. Mycobacterium tuberculosis (MTB) By PCR on Gene Expert
  21. Donor Chimerism
  22. Down’s Syndrome

Parental Diagnosis of Following Disorders.

  1. Beta Thalassemia
  2. Down’s Syndrome
  3. Hemophilia A & B
  4. Glanzmann thrombasthenia

Gene Sequencing Facility using Ticachi 3500 ABI Genetic Analyzer.

  1. Sequencing for Beta Thalassemia
  2. Sequencing for Osteoporosis
  3. Sequencing for NPM1 Mutation
  4. Sequencing for Coagulation factors (I, V, VII, VIII, VWF, IX, X, XI, XIII)
  5. Genetic Defects of Vitamin K
  6. Gentic Defects of Platelet like Glanzmann thrombasthenia, Bernard Soulier
  7. Sequencing of Protein C
  8. Sequencing of Protein S

Next Generation Sequencer

  1. Inherited Disorders Panel: This Helps in diagnosis and carrier identification of severe pediatric onset disorders
  2. Myeloid Panel: This sequencing panel specifically targets 54 genes involved in Myeloid Malignancies

Division of Thrombosis and Hemostasis Reference Lab

About the Division

Thrombosis and hemostasis reference lab is providing quality coagulation testing services since 15 years nationally and specially deserving patients throughout Pakistan, borders of Iran, Afghanistan and Gulf Countries. We have screened 2000 patients of bleeding disorders and 500 of thrombophilia across the Pakistan. THRL is providing their services free of cost for capacity building of hemophilia and other bleeding disorders.

Our Lab Participates in proficiency testing with World Federation of Hemophilia-International External Quality Assessment Scheme (WFH-IEQAS) UK.

Our Lab is also working in collaboration with international universities for learning practical and theoretical skills from experts. Thrombosis and Hemostasis Reference Lab (THRL) is located in Centre of Excellence for Molecular Pathology in NIBD.

THRL offers a wide range of testing of sample analysis, research projects, Product evaluation, instrument validation, clinical trials and more servicing to pharmaceutical companies, diagnostic manufacturers. Clinicians and researchers. Our Lab currently have 3 Coagulation automated analyzer, Helena Platelet Aggregometer, ELISA, FACS 3Calibure for Flowcytometery, Hitachi 3500 ABI Genetic Analyzer, next generation sequencer (Illumina), Hi-tech Refrigerated Centrifuges, -800 C Freezers for storage of specimen and liquid nitrogen facilities for transportation.

Test Profile

  1. PT / APTT
  2. Fibrinogen
  3. D-Dimer
  4. Fibrin Monomer
  5. All Clotting Factors Assays
  6. Ristocetin Induced Platelet Aggregation
  7. Inhibitor Screening
  8. Inhibitor Assay
  9. Mixing Studies
  10. Platelet Aggregation Studies
  11. Thrombophilia Screening
  12. Lupus Anticoagulant
  13. Platelet Glycoprotein Analysis
  14. Sequencing for Coagulation factors (I, V, VII, VIII, VWF, IX, X, XI, XIII)
  15. Genetic Defects of Vitamin K
  16. Genetic Defects of Platelet like Glanzmann thrombasthenia, Bernard Soulier
  17. Sequencing of Protein C
  18. Sequencing of Protein S
  19. Parental Testing of Haemophilia A, B and all Bleeding and Clotting disorders.
  20. Carrier Identification for all bleeding and clotting disorders.

Division of Regenerative Medicine and Stem cell

About the Division

The division of Regenerative Medicine and Stem Cell Lab (RMSCL) was first established in 1995 in Karachi, Pakistan under the supervision of ambitious stem cell researcher Professor Tahir. S. Shamsi, the department is processed more than 500 cases of stem cells and used for the transplantation in variety of haematological disorders. The ultimate goal is to provide the platform for dynamic collaboration among those who will create scientists, clinical researchers, medical care providers, legal and ethical scholars, biomedical engineers and business leaders. The need of time is to translate this knowledge in the next generation of stem cell researchers

State of Art Facilities

Our Lab currently have fully automated Cell Separators, CliniMacs, MacsQuant 7 Color Flowcytometer, Hi-Tech Tissue Culture Lab, Refrigerated Centrifuges, , -800 C Freezers for storage of specimen and liquid nitrogen facilities for transportation.

“If you do not find the specific requirement on our given menu, Please contact us, we havefacilities to develop and validate new techniques. ”

Test Profile

  1. CD 34 Enrichment
  2. CD 134 Enrichment
  3. CD 34 / 133 Co-Enrichment
  4. Allogeneic Peripheral Blood Stem Cells
  5. Bone Marrow Harvesting for Mesenchymal and Haematopoietic Stem Cells
  6. Autologus Peripheral Blood Stem Cell Harvesting
  7. Cryopreservation of Stem Cells
  8. Mesenchymal Stem Cell Culture

Division of Immunology and Applied Microbiology

About the Division

The Division of Immunology and Applied Microbiology is specialized division of Centre of Excellence on Molecular Medicine (CEMM) at National Institute of Blood Disease and Bone Marrow Transplantation (NIBD) Karachi. It is equipped with state of art instruments providing quality diagnostic / research facility.


  • To maintain and improve high quality laboratory testing to aid in diagnosis / treatment of disease.
  • Training of post graduate students to develop into successful research scientists.
  • Basic and applied research in the cellular aspects of infectious diseases, cancer, immunology and host defense.


  • Immunology / Serology
  • Microbiology

Immunology / Serology

Immunology / Serology uses the concept of antigen and antibody as a diagnostic tool.

  • Flowcytometry based tests:

Immunophenotyping of peripheral blood or bone marrow aspirates

  1. Acute Leulemias
  2. Chronic lyphoproligerative disorders.
  • CD34+ enumeration
  • CD4+ count for HIV
  • Minimal residual disease (MRD) detection in acute leukemia
  • Platelet Glycoprotein Analysis
  • Aplastic Anemia Panel
  • Lumphocytes Subsets Analysis

Serology / ELISA

  • Rheumatoid Factor (RA)
  • Antistreptolysin O Titre (ASOT)
  • C-Reactive Protein (CRP)
  • Dengue IgG, IgM, Ag
  • Widal
  • Antinuclear Antibody (ANA) Profile
  • CMV Antibody
  • Typhidot
  • Troponin-I
  • Troponin-T


It receives almost any clinical specimen, including swabs, feces, urine, blood, sputum, cerebrospinal fluid, synovial fluid, as well as possible infected tissue. The work here is mainly concerned with cultures, to look for suspected pathogens which, if found, are further identified based on biochemical tests, also sensitivity testing is carried out to determine whether the pathogen is sensitive or resistant to a suggested medicine. Results are reported with the identified organism(s) and the type and amount of drugs(s) that should be prescribed for the patient. Tests performed are:

  • Urine Culture
  • Blood Culture
  • Bone Marrow Culture
  • Tissue Culture
  • Pus Culture
  • Fungus Culture
  • Fungitell